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osteochondrodysplasia
Inherited developmental disorders causing dwarfism & abnormal body proportions.
Management:
1) no definitive therapy available
2) symptomatic treatment directed at secondary features
a) degenerative arthritis
b) corrective surgery for cleft palate
c) monitor for development of cataracts
d) laser therapy to prevent retinal detachment
3) patient education
a) avoid contact sports
b) counseling for psychological problems associated with short stature
Related
dyschondroplasia
Ellis-van Creveld syndrome (chondroectodermal dysplasia)
fucosidosis
mucosulfatidosis; multiple sulfatase deficiency; Austin variant of metachromatic leukodystrophy
Schwartz-Jampel syndrome (SJS1)
Specific
achondrogenesis
achondroplasia
acromesomelic chondrodysplasia
Cantu syndrome; hypertrichotic osteochondrodysplasia
chondrodysplasia Blomstrand type (BOCD)
chondrodysplasia punctata
Desbuquois dysplasia
fibrochondrogenesis
Jansen-type metaphyseal chondrodysplasia
metatropic dwarfism type 2 (Kniest dysplasia, Kniest syndrome)
multiple epiphyseal dysplasia (EDM)
pseudoachondroplasia
pycnodysostosis
Schmid type metaphyseal chondrodysplasia; includes: spondylometaphyseal dysplasia Japanese type
spondyloepiphyseal dysplasia
Stickler syndrome or hereditary progressive arthroophthalmopathy
X-linked recessive chondrodysplasia punctata 1
General
developmental bone disorder
osteochondropathy (disorder of bone & cartilage)
References
Harrison's Principles of Internal Medicine, 14th ed.
Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2191-92